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Initiative Aims to Alleviate Burden of Rare Diseases in India
In a significant move to address the burden of rare diseases in the country, the Indian Council of Medical Research’s National Institute for Research in Reproductive and Child Health (ICMR-NIRRCH) announced on Wednesday that it would provide free genetic testing and counselling services.
Rare diseases, characterized by chronic and progressive medical conditions, pose life-threatening risks to affected individuals. With an estimated 72-96 million patients in India out of 350 million globally suffering from rare diseases, according to the Ministry of Health and Family Welfare (MoHFW), the initiative comes as a crucial step towards addressing this healthcare challenge.
The newly established Genetic Research Centre (GRC) aims to evaluate clinically abnormal cases of rare pediatric diseases and track the origins of undiagnosed genetic disorders. By facilitating timely therapeutic interventions and providing essential support for patients and their families, the center seeks to improve outcomes for those affected by rare diseases.
Approved under the Pre-Conception and Pre-Natal Diagnostic Techniques Act, 1994 (PCPNDT), the GRC is equipped to conduct genetic counselling and testing. While currently operational in Maharashtra, the center extends its services to individuals with rare diseases across the country.
Dr. Geetanjali Sachdeva, Director of ICMR-NIRRCH, hailed the initiative as a revolutionary step towards early diagnosis and intervention for rare diseases, emphasizing its potential to transform lives, particularly among the younger population.
Given that 95% of rare diseases lack approved treatments, early diagnosis remains crucial. Diagnosis involves a combination of clinical and laboratory methods, including cytogenetic, biochemical, and molecular approaches.
The GRC currently serves approximately 570 families annually, addressing genetic conditions during infancy, childhood, adolescence, and reproductive difficulties faced by couples.
Dr. Shailesh Pande, Medical Geneticist and Head of GRC, highlighted the center’s efforts to raise awareness and enhance uptake of essential testing and counselling services. By collaborating with special schools, hospitals, and the public, the center aims to mitigate the societal burden of rare diseases and contribute to the national goal of ensuring universal access to healthcare services.
The launch of free genetic testing and counselling services represents a significant stride towards addressing the challenges posed by rare diseases, offering hope and support to millions of individuals and families across India.
